1 doctor weighed in:

Can I get my baby tested for brittle bone disease?

1 doctor weighed in

The more severe cases are evident before birth by ultrasound & or neonatal x-rays.

Classification of lesser forms are based on age of first symptoms or specialized testing. My last case involved a skin biopsy and analysis of enzyme production in a specialty lab. Have your dr locate a genetics department at a med school or children's hospital if you want to pursue this testing. They can set it up.

In brief:
Severe cases evident

The more severe cases are evident before birth by ultrasound & or neonatal x-rays.

Classification of lesser forms are based on age of first symptoms or specialized testing. My last case involved a skin biopsy and analysis of enzyme production in a specialty lab. Have your dr locate a genetics department at a med school or children's hospital if you want to pursue this testing. They can set it up.
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